Aphakia, Congenital Primary (ASGD2) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Aphakia, Congenital Primary

Aliases & Descriptions for Aphakia, Congenital Primary:

Name: Aphakia, Congenital Primary 54 12 50 66 13
Congenital Primary Aphakia 50 24 56 66 29
Congenital Aphakia 12 14
Cpa 50 66
Anterior Segment Dysgenesis 2 66
Congenital Absence of Lens 12
Aphakia 42
Asgd2 66
Cpak 66


Orphanet epidemiological data:

congenital primary aphakia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;


aphakia, congenital primary:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 54 610256
Disease Ontology 12 DOID:11367
ICD10 33 Q12.3 H27.0
ICD9CM 35 743.35
NCIt 47 C35172
SNOMED-CT 64 35387008
Orphanet 56 ORPHA83461
ICD10 via Orphanet 34 Q12.3
MESH via Orphanet 43 C537786
UMLS via Orphanet 70 C1853230
MedGen 40 C1853230
MeSH 42 D001035
UMLS 69 C0152422

Summaries for Aphakia, Congenital Primary

UniProtKB/Swiss-Prot : 66 Anterior segment dysgenesis 2: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive.

MalaCards based summary : Aphakia, Congenital Primary, also known as congenital primary aphakia, is related to peters anomaly and aspergillosis, and has symptoms including abnormality of vision, microphthalmia and retinal dysplasia. An important gene associated with Aphakia, Congenital Primary is FOXE3 (Forkhead Box E3), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Hyaluronic acid and Dipivefrin have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are pigmentation and respiratory system

NIH Rare Diseases : 50 congenital primary aphakia (cpa) is a rare eye condition that is present at birth in which the lens is missing. in some cases, cpa can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). this condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. mutations in the foxe3 gene have been associated with this condition. cpa is thought to be inherited in an autosomal recessive here to view a diagram of the eye. last updated: 9/7/2011

Description from OMIM: 610256

Related Diseases for Aphakia, Congenital Primary

Graphical network of the top 20 diseases related to Aphakia, Congenital Primary:

Diseases related to Aphakia, Congenital Primary

Symptoms & Phenotypes for Aphakia, Congenital Primary

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Aphakia, Congenital Primary:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of vision 56 32 Frequent (79-30%) HP:0000504
2 microphthalmia 56 32 Very frequent (99-80%) HP:0000568
3 retinal dysplasia 56 32 Frequent (79-30%) HP:0007973
4 sclerocornea 56 32 Frequent (79-30%) HP:0000647
5 congenital primary aphakia 56 32 Very frequent (99-80%) HP:0007707
6 aniridia 32 HP:0000526
7 aplasia/hypoplasia affecting the anterior segment of the eye 56 Very frequent (99-80%)
8 anterior segment of eye aplasia 32 HP:0007779

MGI Mouse Phenotypes related to Aphakia, Congenital Primary:

id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.65 OTX2 PAX2 PAX6 PITX3 SOX2
2 respiratory system MP:0005388 9.55 HMOX2 OTX2 PAX6 PITX3 SOX2
3 taste/olfaction MP:0005394 9.13 OTX2 PAX6 SOX2
4 vision/eye MP:0005391 9.1 PAX6 PITX3 SOX2 CRYGB OTX2 PAX2

Drugs & Therapeutics for Aphakia, Congenital Primary

Drugs for Aphakia, Congenital Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

id Name Status Phase Clinical Trials Cas Number PubChem Id
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741 24759
Dipivefrin Approved Phase 3 52365-63-6 3105
3 Adjuvants, Immunologic Phase 3
4 Viscosupplements Phase 3
5 Protective Agents Phase 3

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
1 Aphakia Versus Pseudophakia in Children Under 2 Years Undergoing Bilateral Congenital Cataract Surgery Completed NCT01297153 Phase 4
2 Evaluation of the Tecnis™ Multifocal and Crystalens™ Accommodating Intraocular Lenses Completed NCT01061281 Phase 4
3 Co-Axial Micro-Incision Versus Co-Axial Small Incision Cataract Surgery Using the Stellaris Enhancement System Completed NCT01261975 Phase 4
4 Evaluation of the Safety & Effectiveness of the Bausch & Lomb AKREOS® TL Intraocular Lens Completed NCT00838045 Phase 4
5 Safety and Effectiveness of the Akreos Toric Intraocular Lens. Completed NCT00825513 Phase 4
6 Prospective Evaluation of Visual Outcomes With Tecnis One-Piece Multifocal Intraocular Lenses Compared With Patients Previously Implanted With Crystalens Aspheric Optic (AO) Completed NCT01191229 Phase 4
7 Visual and Refractive Outcomes After Implantation of Aspheric IOLs With Different Dioptric Increments and Manufacturing Terminated NCT01249144 Phase 4
8 Night Driving Pilot Withdrawn NCT00876278 Phase 4
9 Infant Aphakia Treatment Study (IATS) Completed NCT00212134 Phase 3
10 One-Piece Hydrophobic Acrylic Intraocular Lens in Subjects Undergoing Cataract Extraction Completed NCT01230060 Phase 3
11 EYEFILL® C. -US Viscoelastic Clinical Investigation Completed NCT02024711 Phase 3
12 Artisan Aphakia Lens for the Correction of Aphakia (Secondary) in Adults Recruiting NCT01547429 Phase 3
13 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
14 Evaluate Capsular Apposition to Intraocular Lens Unknown status NCT01605812
15 Clinical Study of a UV-Absorbing Acrylic Posterior Chamber Intraocular Lens Completed NCT00625313
16 Visual Quality Following Aspheric Intraocular Lens (IOL) Implantation - a Comparative Clinical Study Completed NCT01544777
17 Intraocular Position of Secondary Iris-Fixated IOLs in Aphakic Eyes Completed NCT00773266
18 Comparison of the Hoya Surgical Optics (HSO) iSert 251 Posterior Chamber Aspheric Aphakic Intraocular Lens to Historical / Literature Controls. Completed NCT01292629
19 Comparison of Aspheric Toric & Non-toric Aphakic Intraocular Lenses Completed NCT01268540
20 Accuracy of Holladay 2 Formula in the Absence of Lens Thickness Completed NCT01846078
21 Acrysof Toric SN60T3corneal Astigmatism Between 0.75 and 1.00 D. Completed NCT00542581
22 Clinical Trial With PRECIZON Presbyopic Completed NCT02409771
23 Evaluation Study for a Non-Contact Biometer Completed NCT00494390
24 Clinical Trial to Evaluate the Model SC9 IOL Compared to the Model LI61SE IOL (Bausch & Lomb) Recruiting NCT03179397
25 A Multi Focal Visual Outcome Study Using Different Near Additions Terminated NCT00960700

Search NIH Clinical Center for Aphakia, Congenital Primary

Cochrane evidence based reviews: aphakia

Genetic Tests for Aphakia, Congenital Primary

Genetic tests related to Aphakia, Congenital Primary:

id Genetic test Affiliating Genes
1 Aphakia, Congenital Primary 29
2 Congenital Primary Aphakia 24 FOXE3

Anatomical Context for Aphakia, Congenital Primary

MalaCards organs/tissues related to Aphakia, Congenital Primary:


Publications for Aphakia, Congenital Primary

Variations for Aphakia, Congenital Primary

UniProtKB/Swiss-Prot genetic disease variations for Aphakia, Congenital Primary:

id Symbol AA change Variation ID SNP ID
1 FOXE3 p.Arg90Leu VAR_062584 rs371048362
2 FOXE3 p.Arg120Gly VAR_072783

ClinVar genetic disease variations for Aphakia, Congenital Primary:

id Gene Variation Type Significance SNP ID Assembly Location
1 FOXE3 FOXE3, 1-BP INS, 943G insertion Pathogenic
2 FOXE3 NM_012186.2(FOXE3): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs80358194 GRCh37 Chromosome 1, 47882707: 47882707
3 FOXE3 NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu) single nucleotide variant Pathogenic rs387906793 GRCh37 Chromosome 1, 47882946: 47882946

Expression for Aphakia, Congenital Primary

Search GEO for disease gene expression data for Aphakia, Congenital Primary.

Pathways for Aphakia, Congenital Primary

Pathways related to Aphakia, Congenital Primary according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.38 OTX2 PAX2 PAX6 SOX2
2 11.23 PAX2 PAX6 SOX2
3 10.28 OTX2 PITX3 SOX2

GO Terms for Aphakia, Congenital Primary

Cellular components related to Aphakia, Congenital Primary according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 FOXE3 HDAC9 SOX2

Biological processes related to Aphakia, Congenital Primary according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 OTX2 PAX2 PAX6 PITX3 SOX2
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.91 OTX2 PAX2 PAX6 PITX3 SOX2
3 positive regulation of transcription, DNA-templated GO:0045893 9.77 OTX2 PAX2 PAX6 PITX3 SOX2
4 regulation of gene expression GO:0010468 9.73 PAX6 PITX3 SOX2
5 visual perception GO:0007601 9.72 CRYGB PAX2 PAX6
6 midbrain development GO:0030901 9.58 OTX2 PITX3
7 pituitary gland development GO:0021983 9.54 PAX6 SOX2
8 forebrain development GO:0030900 9.5 OTX2 PAX6 SOX2
9 dopaminergic neuron differentiation GO:0071542 9.49 OTX2 PITX3
10 negative regulation of neurogenesis GO:0050768 9.48 PAX6 PITX3
11 cell fate determination GO:0001709 9.46 PAX2 PAX6
12 iris morphogenesis GO:0061072 9.43 FOXE3 PAX6
13 camera-type eye development GO:0043010 9.43 FOXE3 PAX2 PAX6
14 transcription from RNA polymerase II promoter GO:0006366 9.43 FOXE3 OTX2 PAX2 PAX6 PITX3 SOX2
15 cornea development in camera-type eye GO:0061303 9.4 FOXE3 PAX6
16 eye development GO:0001654 9.33 FOXE3 PAX6 SOX2
17 lens development in camera-type eye GO:0002088 8.92 CRYGB FOXE3 PAX6 PITX3
18 regulation of transcription, DNA-templated GO:0006355 10.07 FOXE3 HDAC9 OTX2 PAX2 PAX6 PITX3

Molecular functions related to Aphakia, Congenital Primary according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.55 FOXE3 OTX2 PAX6 PITX3 SOX2
2 transcription regulatory region DNA binding GO:0044212 9.43 PAX2 PAX6 SOX2
3 sequence-specific DNA binding GO:0043565 9.35 FOXE3 OTX2 PAX6 PITX3 SOX2
4 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 8.92 OTX2 PAX6 PITX3 SOX2

Sources for Aphakia, Congenital Primary

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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